Sickle Cell Disease

Sickle cell disease (HbS) is a severe hereditary form of anemia in which a mutated form of hemoglobin distorts the red blood cells into a crescent shape at low oxygen levels. It is commonest among those of African descent. In this disease, a single base mutation in the β-globin gene leads to the substitution of valine for glutamine at the 6th […]






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Thalassemias

Thalassemias are inherited disorders in which there is an abnormality of one or more of the globin genes leading to reduced globin protein production. There is, therefore, an imbalance of ß:α globin chain synthesis leading to globin chain precipitation, ineffective erythropoiesis and hemolysis. The hemoglobin molecule is a tetramer consisting of 4 polypeptide chains, known as globins, which are usually: 2 […]






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Pyruvate Kinase Deficiency

Pyruvate kinase (PK) deficiency is one of the most common enzymatic defects of the RBCs, it manifests clinically as a hemolytic anemia that can range from mild to severe. Pyruvate kinase (PK) deficiency is inherited in an autosomal recessive pattern. The birth history of patients with pyruvate kinase deficiency includes severe anemia, severe jaundice, kernicterus, and a history of exchange transfusion. […]






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G6PD Deficiency

Introduction: Glucose 6 phosphate dehydrogenase (G6PD) deficiency affects approximately 400 million individuals worldwide. It is the most common human enzyme defect. The global distribution of this disorder is remarkably similar to that of malaria, lending support to the so-called malaria protection hypothesis. It is common in Africa, around the Mediterranean and in the Orient. G6PD deficiency is an X-linked recessive disorder. The hereditary genetic […]






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Paroxysmal Nocturnal Hemoglobinuria

PNH

Thromboses may occur in PNH at unusual sites In Paroxysmal Nocturnal Hemoglobinuria (PNH) there is a clone of abnormal hemopoietic stem cells in which there is a deficiency of molecules normally anchored to the membrane by phosphatidyl inositol linkages. The gene responsible for PNH is carried on X chromosome and both males and females may be affected. The red cell membranes are […]






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Acanthocytosis

Acanthocytes (spur cells) are spiculated red cells with a few projections of varying size and surface distribution. Acanthocytosis may be inherited (autosomal recessive) in association with retinitis pigmentosa, diffuse neurological deficits, and aß-lipoproteinemia.  Acanthocytes are also seen in renal failure, liver cirrhosis, microangiopathic hemolytic anemia, and as an artifact in blood stored in EDTA. Acanthocytes should be distinguished from Echinocytes […]






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Stomatocytosis

Stomatocytes (RBCs with slit-like central pallor) Stomatocytosis is a rare condition of RBCs in which a mouthlike or slitlike pattern replaces the normal central zone of pallor. These cells are associated with congenital and acquired hemolytic anemia. The symptoms result from the anemia. The rare congenital stomatocytosis, which shows autosomal dominant inheritance, causes a severe hemolytic anemia presenting very early […]






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Elliptocytosis

Hereditary Elliptocytosis (also known as ovalocytosis) is a disorder of the red cell membrane inherited usually in an autosomal dominant pattern. In this condition, the majority of cells have an elliptical shape. The osmotic fragility is normal. Most affected individuals are asymptomatic, though mild anemia, jaundice, splenomegaly and leg ulcers can occur. The diagnosis of hereditary elliptocytosis is usually made by […]






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Spherocytosis

Hereditary Spherocytosis (HS) is a disorder of the red cell membrane inherited usually in an autosomal dominant pattern. In this condition, the red cells are more rigid and fragile than normal. They are spherocytic in shape appearing small and deeply stained on blood smears, and have osmotic fragility. A normal red blood cell can live for up to 120 days. […]






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Hemolytic Anemias

Mild jaundice in autoimmune hemolytic anemia (AIHA) Clinical features: Features of anemia (feeling tired, weakness, shortness of breath on exertion or a poor ability to exercise). Mild jaundice. Variable degrees of splenomegaly. Occasional leg ulcers in chronic cases. Occasional biliary colic in chronic cases (pigment gallstones). Leg Ulcers with Sickle Cell Anemia and other Hemolytic Anemias Aetiology: The potential causes […]






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